Tag: ovarian cancer

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Significance of BRCA genes in ovarian cancer.

International symbol of breast cancer awareness. (iStockphoto)
International symbol of breast cancer awareness. (iStockphoto)

First, it was Angelina Jolie, who had a double mastectomy because of increased genetic risk of breast cancer due to the presence of BRCA gene. The presence of BRCA gene also increases the risk of ovarian cancer. We know that if you have a family history of ovarian cancer then the risk of ovarian cancer increases amongst women in that family.

Take for example the recent announcement that Pierce Brosnan’s daughter Charlotte Emily died of ovarian cancer at age 42. Brosnan is a former James Bond star whose first wife, Cassandra (Charlotte’s mother), was also killed by the same disease in 1991 when she was 43. I am not sure if Charlotte Emily’s BRCA status is known.

There are two types of BRCA genes known as BRCA1 and BRCA2. BRCA is an abbreviation for breast cancer. These genes are tumour suppressor genes and once they undergo changes (mutation), their capacity to normally prevent cancer from developing is lost. It is now known that women found to have mutations in the genes have a very high risk of developing breast and ovarian cancers.

The genetic mutations are not common. About one in 500 to one in 1,000 individuals will carry a mutation or a gene change in one or another of these genes. It generally occurs amongst people who tend to stay together and don’t have offspring with people from other types of ethnicities. Experts say these mutations tend to stay within one group of individuals.

What distinguishes BRCA1 and BRCA2 genes is where they’re located in the chromosomes. There are also slight differences in terms of the types of cancers associated with the two genes.

The main difference in the two genes is that carriers of the BRCA1 gene mutation have a slightly increased risk of ovarian cancer compared to those with BRCA2. It is also known that carriers of BRCA2 genes have risks of different types of cancers, including pancreatic cancer and melanoma.

For ovarian cancer, women with a mutated BRCA1 gene have a 25 to 65 per cent lifetime risk of developing the disease. Those with a mutated BRCA2 gene have a 15 to 20 per cent chance of developing ovarian cancer.

For men, it is little different. For men with the BRCA2 mutation, there’s an increased risk of both prostate and breast cancers.

Who can ask for BRCA genetic testing?

There has to be a strong family history of cancer. The cancer must have occurred in young ages within the family and if you are a member of ethnic groups known to be affected then you would be eligible. If you don’t meet the criteria but still want to be tested then you can go south of the border and get yourself tested for about $3,000.

Early detection of breast cancer has dramatically changed the prognosis of the disease. We cannot say the same thing about ovarian cancer because we do not have any tests for early detection.

Each year, about 2400 Canadian women are diagnosed with ovarian cancer. Sadly, 1700 women with the disease die each year. In North America, ovarian cancer is the second most common gynecologic malignant disease and is the leading cause of death among women with gynecologic cancer.

More than 60 per cent of the women are in advanced stage when first diagnosed. Their five year survival rate is less than 30 per cent. Their prognosis is poor and they have very few treatment options. Some studies have reported higher survival rates of greater than 90 per cent in women with stage one disease. Only 25 per cent of the women are diagnosed early.

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An Angel with Ovarian Cancer

Recently, an angel was diagnosed with ovarian cancer. She is 87-years-old. I have known her for many years. She is an angel because she is kind, she is generous, she is caring and she believes in miracles. She has been an excellent wife, mother and grandmother. She lost her husband 17 years ago but managed to survive in Canada without speaking any English. She is one tough lady.

But now her time is up. Doctors have said her prognosis is poor. Once cancer has spread it is usually a losing battle. But how long the battle will last is anybody’s guess. In the meantime my angel is wasting away – slowly and sometimes painfully. Her sprit is high but the energy level is low. What keeps her going is her family and friends. Some of them have flown from all over the world. They are here to say thanks for the memories and good-bye. They want to pay their last respects.

Each year, about 2400 Canadian women or angels are diagnosed with ovarian cancer. Sadly, 1700 women with the disease die each year. In North America, ovarian cancer is the second most common gynecologic malignant disease and is the leading cause of death among women with gynecologic cancer.

Why do so many women die of ovarian cancer? More than 60 per cent of the women are in advanced stage when first diagnosed. Their five year survival rate is less than 30 per cent. Their prognosis is poor and they have very few treatment options. Some studies have reported higher survival rates of greater than 90 per cent in women with stage one disease. Only 25 per cent of the women are diagnosed early.

Is there anyway we can detect ovarian cancer early? In early stages symptoms are usually non-specific and vague, but as the disease progresses they may include abdominal distention or pain, change in bowel and/or bladder habits, and gynecologic complaints such as pain during intercourse. Pelvic examination does not help in early cases but generally detect ovarian cancer that is at an advanced stage. So, early diagnosis is difficult.

There have been several studies to examine the efficacy of routine ultrasound and screening using blood test CA125 for early detection. Unfortunately, these techniques have not been clearly shown to be effective for early detection. Therefore, there is no recommendation to use ultrasound or CA125 blood test for screening.

There are two risk factors for ovarian cancer: first, 10 per cent of women with ovarian cancer have a family history of the same disease and second, a much larger group includes postmenopausal women who are over 50 years of age, in whom 90 per cent of ovarian cancer occurs sporadically.

One study suggests that women who do not have regular medical check-ups or pelvic examinations and who have no regular family physician or health care provider are at increased risk of ovarian cancer. The authors of the study say that although the exact mechanism of this association is unknown, women, especially those who are postmenopausal, should be encouraged to maintain regular medical care. Women who are found to have benign diseases of the ovary are also thought to be at a higher risk for ovarian cancer.

Many aspects of ovarian cancer are poorly understood. So screening is not currently recommended for the general population. There are a number of trials going on which may give us answers in the future. But this may take many years.

For now, there isn’t much good news for women in general and my angel in particular. I hope she does not suffer for too long. Some days pain and vomiting is unbearable. Some days things are not bad. I worry and have sleepless nights about my angel because she is precious and she is my mother.

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Screening For Ovarian Cancer

Dear Dr. B: I am worried about ovarian cancer. Is there a screening program for this condition?

According to Alberta Cancer Board, in year 2001, 11,730 Albertans were newly diagnosed with all types of invasive cancer, and 4,785 died from cancer. Of these, two percent of the deaths were related to ovarian cancer compared to nine percent of the deaths due to breast cancer.

In Canada, ovarian cancer is the fifth leading cause of cancer deaths among Canadian women. It causes 1500 deaths per year.

So, the number of cancer deaths due to ovarian cancer is not that high. But the problem is ovarian cancer is generally detected at an advanced stage and is associated with a five-year survival rate of about 30 percent, says an article in the Canadian Medical Association Journal (CMAJ).

The survival rates for ovarian cancer can be more than 90 percent if the cancer is detected at an early stage. But there are no effective screening methods for detecting ovarian cancer.

The CMAJ article discusses two screening strategies: ultrasound alone, or the multimodal screening approach using serum tumor marker CA125 followed by ultrasound.

Pelvic or transvaginal ultrasound has low specificity for ovarian cancer and thus many women undergo unnecessary further investigations if the findings on the ultrasound are non-specific.

One of the serum tumor markers for ovarian cancer is CA 125. It has a limited specificity. The marker is also present in the presence of other types of cancers (pancreas, breast, bladder, liver, and lung) and in some benign conditions. But the specificity of the CA 125 can be improved by adding ultrasound as a second line of investigation.

Who is at increased risk of ovarian cancer?
-10 percent of women with ovarian cancer have hereditary risk factor
-90 percent of ovarian cancers occur in post-menopausal women over the age of 50.

So, what do we know about screening for ovarian cancer?

The CMAJ article says:

-many aspects of ovarian cancer screening are poorly understood
-it is not known whether screening saves lives
-screening for ovarian cancer is not currently recommended for the general population
-over the next few years we may know more about screening once we get results from the number of trials going on in the world
-screening is an option for women with family history of ovarian cancer.

If you are worried about ovarian cancer then you should talk to your family doctor who can make the necessary recommendations to you.

A thought for the week:


“Childhood whining typically peaks some time under age seven. If you have a child who’s older and a chronic whiner, it may be because you are, too. The more we whine, the more our children will.” Barbara Meltz in The Boston Globe.

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Ovarian and Uterine Cancer

“Dr. B, can we discuss early detection and prevention of cancers of the ovary and uterus?”

Sure, Susan. I will give you some information today and you discuss this further with your family doctor and/or gynecologist. Remember cancer of the uterus can be either in its body (endometrial) or in its opening (cervix).

In 1993, 606 Alberta women were diagnosed with invasive (beyond the superficial layer) cancers of the female genital organs: endometrial 256, ovary 203, cervix 122 and others 25. This does not include 1517 women who were diagnosed with in-situ (confined to the superficial layer) cancers of the cervix.

“What symptoms would I have if I had cancer of the ovary or uterus?”

Susan, unfortunately the early symptoms are none or very vague. Early diagnosis of ovarian cancer is more a matter of chance. Irregular vaginal bleeding may be the only early sign of uterine cancer. Hence, most of the gynecological cancers are picked up at a late stage. Of course, the Pap smear has completely changed the outcome of cervical cancers.

“Doctor, are there any risk factors which I should be aware of?”

Susan, for ovarian cancer, the risk factors are age (steady rise up to age 80) and family history. For endometrial cancer – age, obesity and estrogen therapy are major risk factors. For cervical cancer, the risk factors are well recognized. These are: some types of sexually transmitted disease(s), early age at first intercourse, and having multiple sexual partners.

“Doctor, what about screening tests?”

Susan, for ovarian and endometrial cancers, there are no recommendation for screening. But for cervical cancer, Pap smear is highly recommended. In U.S., this has reduced the incidence and death rate by 70 percent in the last 40 years.

Invasive cervical cancer is usually diagnosed between the ages of 45 and 50. But the average age of women with carcinoma in-situ is between 25 and 30 with evidence of increase in younger women. This could be related to risky health practices, such as experimenting with new ideas, relationships and activities during adolescence which may have long term adverse consequences.

“Dr. B, final question! How often should a woman get a Pap smear?”

Susan, for those who are not at high risk, first Pap smear should be done soon after the age of 18 or once the woman is sexually active. If this is normal and the one after a year is also normal then repeat after every three years until age 70.

It is very important for every woman to discuss her risk factors with her family doctor and/or gynecologist. Recommendations may vary. Any unexpected vaginal bleeding should be reported to your doctor to see if further investigation is required.

“Thank you, doctor,” Susan said as she got ready to leave my office. She continues to strive for good health for herself and her family. I admire her dedication.

(This series of articles explore the health problems of Dave and his family. They are composite characters of a typical family with health problems)

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